The FASEB Journal, 2019 Mutations in the coding sequence of the hCRT‐1 gene (SLC6A8) have been associated with the creatine transporter deficiency (CTD) syndrome. CTD encompasses a range of moderate to severe conditions, from epilepsy, mental retardation, autism, development delay, behavioural problems and motor dysfunction to gastrointestinal symptoms ...
Sonja Sucic +2 more
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New insights into creatine transporter deficiency [PDF]
, 2020 Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell ...
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Targeted next generation sequencing in patients with inborn errors of metabolism [PDF]
, 2018 BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster.
Armstrong i Morón, Judith +9 more
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Cerebral Creatine Deficiency Syndromes [PDF]
, 2012 Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity.
Diogo, L +4 more
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Effect of age, diet and tissue type on PCr response to creatine supplementation [PDF]
, 2017 Creatine/phosphorylcreatine (PCr) responses to creatine supplementation may be modulated by age, diet, and tissue, but studies assessing this possibility are lacking.
Bruno Gualano +7 more
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A Comprehensive Review of the 1H-MRS Metabolite Spectrum in Autism Spectrum Disorder [PDF]
, 2016 Neuroimaging studies of neuropsychiatric behaviour biomarkers across spectrum disorders are typically based on diagnosis, thus failing to account for the heterogeneity of multi-dimensional spectrum disorders such as autism (ASD).
Talitha C. Ford, David P. Crewther
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Cerebral creatine deficiency syndromes: 13 years experience in Portugal [PDF]
, 2017 Os síndromes da deficiência em creatina cerebral são um grupo de erros inatos do metabolismo da creatina que incluem as deficiências de síntese da creatina: arginina:glicina amidinotransferase (AGAT) e S-adenosil- L-metionina:guanidinoacetato ...
Lopes, Altina +2 more
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Programming Skeletal Muscle Metabolic Flexibility in Offspring of Male Rats in Response to Maternal Consumption of Slow Digesting Carbohydrates during Pregnancy [PDF]
, 2020 Skeletal muscle plays a relevant role in metabolic flexibility and fuel usage and the associated muscle metabolic inflexibility due to high-fat diets contributing to obesity and type 2 diabetes.
Andújar, Eloísa +7 more
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Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [PDF]
, 2018 While it was thought that most of cerebral creatine is of peripheral origin, AGAT and GAMT are well expressed in CNS where brain cells synthesize creatine.
Braissant, Olivier
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Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development. [PDF]
, 2015 Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in
Braissant, O. +4 more
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